Hyperphosphatasia with impaired intellectual development syndrome 3

Preferred Label : Hyperphosphatasia with impaired intellectual development syndrome 3;

Symbol : HPMRS3;

CISMeF acronym : GPIBD8; HPMRS3; MRT17; MRT21;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Mental retardation, autosomal recessive 17; MRT21; GPIBD8; Mental retardation, autosomal recessive 21; MRT17; Glycosylphosphatidylinositol biosynthesis defect 8;

Description : Hyperphosphatasia with mental retardation syndrome-3 is an autosomal recessive disorder usually characterized by severe mental retardation, hypotonia with very poor motor development, poor speech, and increased serum alkaline phosphatase (summary by Hansen et al., 2013). However, the severity of the disorder can also vary to include milder intellectual disability (Krawitz et al., 2013). For a discussion of genetic heterogeneity of HPMRS, see HPMRS1 (239300).;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the post-GPI attachment to proteins 2 gene (PGAP2, 615187.0001);

Laboratory abnormalities : Increased serum alkaline phosphatase; Hyperphosphatemia;

Prefixed ID : #614207;

Details

Origin ID

614207;

UMLS CUI

C3280153;

Automatic exact mappings (from CISMeF team)
- Autosomal recessive non-syndromic intellectual disability [ORDO Disease]
- PGAP2 wt Allele [NCIt concept]
Genes related to phenotype
- Post-gpi attachment to proteins 2 [OMIM gene]
HPO term(s)
- Absent speech [HPO term]
- Autosomal recessive inheritance [HPO term]
- Broad nasal tip [HPO term]
- Cerebral atrophy [HPO term]
- Cleft palate [HPO term]
- Congenital onset [HPO term]
- Elevated circulating alkaline phosphatase concentration [HPO term]
- Generalized hypotonia [HPO term]
- Global developmental delay [HPO term]
- Hearing impairment [HPO term]
- Hyperphosphatemia [HPO term]
- Hypotonia [HPO term]
- Intellectual disability, mild [HPO term]
- Intellectual disability, severe [HPO term]
- Microcephaly [HPO term]
- Seizure [HPO term]
- Short nose [HPO term]
- Tented upper lip vermilion [HPO term]
- Wide nasal bridge [HPO term]
ORDO concept(s)
- Hyperphosphatasia-intellectual disability syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]

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